Preferred Label : Hawkinsinuria;
ICD-11 definition : Hawkinsinuria is an inborn error of tyrosine metabolism characterized by failure to
thrive, persistent metabolic acidosis, fine and sparse hair, and excretion of the
unusual cyclic amino acid metabolite, hawkinsin ((2-l-cystein-S-yl, 4-dihydroxycyclohex-5-en-1-yl)acetic
acid), in the urine.;
ICD-11 synonym : 4-alpha-hydroxyphenylpyruvate hydroxylase deficiency; 4-hydroxyphenylpyruvic acid dioxygenase deficiency; 4-HPPD deficiency;
Origin ID : 786595759;
UMLS CUI : C2931042;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- Semantic type(s)
- UMLS correspondences (same concept)
Hawkinsinuria is an inborn error of tyrosine metabolism characterized by failure to
thrive, persistent metabolic acidosis, fine and sparse hair, and excretion of the
unusual cyclic amino acid metabolite, hawkinsin ((2-l-cystein-S-yl, 4-dihydroxycyclohex-5-en-1-yl)acetic
acid), in the urine.
